Incidental Mutation 'IGL02189:Gem'
ID 283773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gem
Ensembl Gene ENSMUSG00000028214
Gene Name GTP binding protein (gene overexpressed in skeletal muscle)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # IGL02189
Quality Score
Status
Chromosome 4
Chromosomal Location 11704457-11714752 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11706121 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 70 (S70T)
Ref Sequence ENSEMBL: ENSMUSP00000103939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029868] [ENSMUST00000108304]
AlphaFold P55041
Predicted Effect possibly damaging
Transcript: ENSMUST00000029868
AA Change: S70T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: S70T

DomainStartEndE-ValueType
low complexity region 56 70 N/A INTRINSIC
Pfam:Miro 76 193 4.9e-21 PFAM
Pfam:Ras 76 240 1.9e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108304
AA Change: S70T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: S70T

DomainStartEndE-ValueType
low complexity region 56 70 N/A INTRINSIC
Pfam:Roc 76 194 2.6e-11 PFAM
Pfam:Ras 76 240 1.3e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased insulin secretion and abnormal calcium handling in pancreatic beta-cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A T 11: 48,947,421 (GRCm38) Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 (GRCm38) S375P probably damaging Het
Abi1 A C 2: 23,040,064 (GRCm38) M1R probably null Het
Acss1 T C 2: 150,629,868 (GRCm38) D322G probably damaging Het
Adam22 G A 5: 8,330,029 (GRCm38) R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 (GRCm38) H515R probably benign Het
C3 T C 17: 57,220,113 (GRCm38) K779E probably benign Het
Cfhr2 A G 1: 139,821,759 (GRCm38) Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 (GRCm38) probably benign Het
Csmd1 T A 8: 16,271,606 (GRCm38) I493F probably damaging Het
Daam1 A T 12: 71,946,285 (GRCm38) R349S unknown Het
Dnah11 T C 12: 118,082,579 (GRCm38) E1708G probably benign Het
Epg5 A G 18: 78,012,870 (GRCm38) D1753G probably damaging Het
Flt4 T G 11: 49,626,003 (GRCm38) C206G probably damaging Het
Fscn1 G T 5: 142,960,620 (GRCm38) A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 (GRCm38) N272K probably damaging Het
H2-K1 A G 17: 33,999,492 (GRCm38) L150P probably damaging Het
Hsd3b3 T A 3: 98,742,138 (GRCm38) I290L probably benign Het
Iws1 A G 18: 32,093,125 (GRCm38) R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 (GRCm38) probably null Het
Klra4 T A 6: 130,044,142 (GRCm38) D230V possibly damaging Het
Krt26 C T 11: 99,333,645 (GRCm38) R349Q probably benign Het
Liat1 A G 11: 76,000,230 (GRCm38) K57E probably damaging Het
Lilra5 A T 7: 4,237,969 (GRCm38) M21L probably benign Het
Lrrc20 T A 10: 61,527,108 (GRCm38) V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 (GRCm38) M426L probably damaging Het
Mylk2 C T 2: 152,915,154 (GRCm38) P283L probably damaging Het
Mynn T A 3: 30,613,544 (GRCm38) probably benign Het
Odr4 G T 1: 150,372,033 (GRCm38) N356K possibly damaging Het
Or4c1 A C 2: 89,303,297 (GRCm38) C98W probably damaging Het
Parl T A 16: 20,297,703 (GRCm38) I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 (GRCm38) V5A probably damaging Het
Pld1 G A 3: 28,120,783 (GRCm38) V857I probably benign Het
Ptprf T A 4: 118,213,642 (GRCm38) probably benign Het
Ptprn A G 1: 75,258,495 (GRCm38) S170P possibly damaging Het
Ror2 C T 13: 53,110,728 (GRCm38) S764N probably damaging Het
Rps27a C A 11: 29,546,772 (GRCm38) Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 (GRCm38) probably benign Het
Scube3 G T 17: 28,162,996 (GRCm38) C332F probably benign Het
Sh3glb2 T C 2: 30,345,339 (GRCm38) probably null Het
Sh3tc2 A G 18: 61,990,622 (GRCm38) E818G probably benign Het
Slc16a3 G A 11: 120,956,771 (GRCm38) V262I probably benign Het
Sptbn1 T A 11: 30,117,871 (GRCm38) D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 (GRCm38) probably null Het
Tep1 A G 14: 50,826,826 (GRCm38) L2442S probably benign Het
Tonsl A T 15: 76,623,178 (GRCm38) V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 (GRCm38) H468L probably benign Het
Ttc27 C T 17: 74,729,899 (GRCm38) T189M probably damaging Het
Ttn T C 2: 76,890,156 (GRCm38) probably benign Het
Ttn T G 2: 76,759,895 (GRCm38) I21157L probably damaging Het
Vav3 T A 3: 109,525,960 (GRCm38) probably benign Het
Zfp318 C T 17: 46,396,810 (GRCm38) R265* probably null Het
Other mutations in Gem
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gem APN 4 11,705,980 (GRCm38) missense probably benign
IGL02571:Gem APN 4 11,713,628 (GRCm38) missense probably benign 0.28
R1565:Gem UTSW 4 11,713,709 (GRCm38) missense possibly damaging 0.62
R3806:Gem UTSW 4 11,705,965 (GRCm38) nonsense probably null
R3893:Gem UTSW 4 11,705,889 (GRCm38) intron probably benign
R4353:Gem UTSW 4 11,705,939 (GRCm38) missense probably damaging 1.00
R4724:Gem UTSW 4 11,706,074 (GRCm38) missense probably damaging 0.96
R7676:Gem UTSW 4 11,711,170 (GRCm38) missense possibly damaging 0.83
R8779:Gem UTSW 4 11,711,166 (GRCm38) missense possibly damaging 0.94
R9708:Gem UTSW 4 11,711,154 (GRCm38) missense possibly damaging 0.46
Posted On 2015-04-16